Variant report

Variant	rs2823335
Chromosome Location	chr21:16904508-16904509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10854386	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088441	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11088442	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11088443	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11088447	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11909880	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11911998	0.90[EUR][1000 genomes]
rs11912014	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12151954	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2823325	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823326	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823333	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2823337	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2823342	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2823347	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2823348	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2823350	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2823352	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2823359	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2823361	0.88[EUR][1000 genomes]
rs4816600	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116400	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57533932	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61412083	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61704885	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9976620	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1064621	chr21:16881027-16937290	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv519258	chr21:16904025-16904508	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2823335	RBM11	cis	cerebellum	SCAN
rs2823335	BTG3	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16901200-16906200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:16904200-16904800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:16904400-16906800	Enhancers	Dnd41	blood

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